I need to do a good update on Bryce and Annalise, but first I want to finish about our trip to DC. There were a few others things that we discussed with Dr. Vanderver while in DC. Sorry it has taken me so long to get to this update. The first two are questions that I asked her and the last two are things that I had been thinking about, but that she answered before I even asked.
1. What about Botox? Is it safe for children with AGS? She explained to us that the Botox in AGS children scare comes mainly from one family's experience. She said that they have 2 affected children and had done botox multiple times. The children also had multiple times of regression which were unrelated to the Botox injections. However, after one of the Botox treatments, the children did regress and the family believes it is because of the Botox.
Dr. Vanderver and Dr. Evans said that they could not say whether we should or shouldn't have Botox done, but that they have many Children with AGS who have had Botox done multiple times without any issues. They explained that it is an injection, so there are always risks, but that they have also seen huge benefits from it in these kids. They said that if we do decide to do it, we should start with a small amount and see how Bryce responds. They also gave us some other alternatives that we will discuss with our Physical medicine doctor when we meet with her again.
2. I also asked if it is not AGS that Bryce and Annalise have, does she think that it is some other type of Leukodystrophy. She didn't really answer that directly, but did give us some very interesting information. She said that Leukodystrophy has become a word used to describe any disorder having to do with the white matter. She said that she is on a team of professionals who are rewriting the definition of Leukodystrophy to make it much more specific. These diseases with actually have another name...although I can't remember what that is. She said that once that happens, many of the "leukodysrophies" will no longer be a part of that group and that AGS is one that will most likely not "make the cut". Very interesting!
3. Will Annalise regress as far as Bryce has? Not necessarily. She explained that even if they have the exact same mutation, their symptoms and regression could be very different. The reason for this is because of all the other Genes that make up who they are and how these genes work with the mutated ones. So, that is very encouraging news! It also helps to explain why Annalise has not regressed as quickly as Bryce. Same disease...but still two very individual children!
4. Should we continue to search? What she had to say about this was very interesting to me. The three main reasons that she gave as to why we should keep searching were the exact reasons I have for not wanting to quit and just take AGS as the diagnosis. She did say that there are many good reasons why people sometimes quit looking although they do not have a sure diagnosis. Many Leukodystrophies go undetermined. Continuing to search takes a toll on a family. It can be a very emotional, financial, physical, etc. burden on all members of a family and sometimes it is just better to enjoy the child and accept not knowing for sure.
However, in our situation, she assured us that if no deletion is found and we are still willing to keep searching, she will help us any way that she can. She also said that as long as we are up to it, she feels very strongly that we need to continue to search...mainly because although our children have many characteristics of children with AGS, their MRI's/CT scans just do not look like that of a child with AGS...mostly because there is no calcification on the brain. That is the one thing that has always bugged me about an AGS diagnosis. Who knows, they may actually have something that can be cured!
Another reason to continue the search although we do not plan to have more children, is for the future of our other boys. If we find out what Bryce and Annalise have, the boys can be tested so that when it comes time for them to marry and have children of their own, or if they begin to have any type of symptoms, they will know if they are carriers of a certain disorder.
And the final reason that she gave to continue to search is because if it is AGS5, they need to be monitored very closely. Intracerebral large artery disease has been found in multiple children with the SAMHD1 mutation. This has been known to cause fatal strokes, aneurysms, and hemoraging in these kids. That right there is reason enough for me to find out if it truly is AGS5 and if so, to begin having our children monitored for this!